NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000011187.6

Allele description [Variation Report for NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)]

NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)

HGVS:

NC_000023.11:g.71224321A>G
NG_008357.1:g.14110A>G
NM_000166.6:c.614A>GMANE SELECT
NM_001097642.3:c.614A>G
NP_000157.1:p.Asn205Ser
NP_001091111.1:p.Asn205Ser
LRG_245t2:c.614A>G
LRG_245:g.14110A>G
LRG_245p2:p.Asn205Ser
NC_000023.10:g.70444171A>G
NM_000166.5:c.614A>G
P08034:p.Asn205Ser

Protein change:

N205S; ASN205SER

Links:

UniProtKB: P08034#VAR_002126; OMIM: 304040.0012; dbSNP: rs104894822

NCBI 1000 Genomes Browser:

rs104894822

Molecular consequence:

NM_000166.6:c.614A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.614A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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serine hydrolase [Castellaniella ginsengisoli]
serine hydrolase [Castellaniella ginsengisoli]
gi|2781048417|ref|WP_368644457.1|

Protein
phage protein [Castellaniella ginsengisoli]
phage protein [Castellaniella ginsengisoli]
gi|2781045732|ref|WP_368641775.1|

Protein
SRX16652047 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031414	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000040509	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031414

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000040509

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.

Bähr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J.

J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):202-6.

PubMed [citation]

PMID:: 10071100
PMCID:: PMC1736220

GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes.

Abrams CK.

1998 Jun 18 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301548

Details of each submission

From OMIM, SCV000031414.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Since CX32 is expressed not only in Schwann cells in the peripheral nervous system but also in oligodendrocytes in the central nervous system, Bahr et al. (1999) examined a CMTX1 (302800) family for evidence of CNS involvement. The family had an asn205-to-ser mutation involving the fourth transmembrane domain of CX32. The patients showed typical clinical and electrophysiologic abnormalities in the peripheral nervous system, but, in addition, visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathologic changes in visual evoked potentials, brainstem auditory evoked potentials, and central motor evoked potentials. They suggested that abnormal electrophysiologic findings in CNS pathway examinations should raise the suspicion of CMTX and a search for mutations in the GJB1 gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000040509.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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